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The Genomic Medicine Research Group at Ulster focus on identifying the mutations which cause ocular surface disorders and in doing so they facilitate improved diagnosis and treatment in the ageing or diseased eye. This work has resulted in discovery of a number of highly disruptive mutations and subsequently development of preclinical models allowing assessment of gene therapy in a mutation or allele specific approach, paving the way for cutting edge therapeutics to be applied to the eye. The ultimate goal is to move forward how eye diseases are treated in the clinical setting with the ability to quickly detect the disease causing mutation, screen all family members, predict who will develop the disease and in a preventative measure treat prior to any damage to the delicate ocular surface occurs, thus retaining sight.

The group have focused on siRNA silencing of the mutant allele and are also developing some novel knock out replacement strategies. It is anticipated that a patient could be given eye drop formulations containing a very precise siRNA designed specifically for the mutation they carry and when applied to the front of the eye this siRNA will enter the cells and act almost like an eraser deleting all the mistaken, mutation encoded messengers which cause the disease symptoms to appear. This approach brings together stratified medicine and personalised treatment in what is now termed Precision Medicine.